Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.

We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent osteoma cutis. The presence of these lesions in pediatric patients should prompt the dermatologist's consideration of this group of diseases when reaching a diagnosis. A multidisciplinary team of pediatricians, endocrinologists, geneticists, and dermatologists should carefully evaluate these patients.

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in individuals with short stature and mild skeletal anomalies has been increasing over recent years, allowing us to broaden the clinical spectrum of skeletal dysplasias. OBJECTIVE: The objective of this article is to describe the genotype and phenotype of 16 probands with heterozygous variants in IHH. PATIENTS AND METHODS: Targeted next-generation sequencing or Sanger sequencing was performed in patients with short stature and/or brachydactyly for which the genetic cause was unknown. RESULTS: Fifteen different heterozygous IHH variants were detected, one of which is the first reported complete deletion of IHH. None of the patients showed the classical phenotype of brachydactyly type A1. The most frequently observed clinical characteristics were mild to moderate short stature as well as shortening of the middle phalanx on the fifth finger. The identified IHH variants were demonstrated to cosegregate with the short stature and/or brachydactyly in the 13 probands whose family members were available. However, clinical heterogeneity was observed: Two short-statured probands showed no hand radiological anomalies, whereas another 5 were of normal height but had brachydactyly. CONCLUSIONS: Short stature and/or mild skeletal hand defects can be caused by IHH variants. Defects in this gene should be considered in individuals with these findings, especially when there is an autosomal dominant pattern of inheritance. Although no genotype-phenotype correlation was observed, cosegregation studies should be performed and where possible functional characterization before concluding that a variant is causative.

[Lipid profile and hormonal study in the schoolchildren of the province of Alicante]. / Perfil lipídico y estudio hormonal en población escolar de la provincia de Alicante.

INTRODUCTION: Childhood obesity has increased alarmingly in Europe and the USA, with a rise in the consequences of this epidemic, such as type 2 diabetes, hyperlipidemia and cardiovascular disease. OBJECTIVE: To study the lipid and hormonal profile of schoolchildren in the province of Alicante and to analyze the relationship between body mass index (BMI) and the variables of interest in this study. MATERIALS AND METHODS: We performed a cross-sectional epidemiological study of a cohort of schoolchildren (6-11 years) from the province of Alicante (n = 394, 204 boys and 190 girls). Height and weight were measured. We measured the following analytic variables: total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c), triglycerides, leptin, thyrotropin (TSH), free thyroxin (T4), insulin-like growth factor-1 (IGF-1), cortisol, androstenedione, dehydroepiandrosterone sulfate (DHEAS), testosterone and estradiol. Obesity was defined as a BMI > or = 2 SD, using the population curves in the longitudinal study of Zaragoza (Spain) as the reference. RESULTS: When studying lipid risk, we observed that 13.5% had cholesterol levels of > 200 mg/dl, 9.4% had triglyceride levels of > 100 mg/dl and 30.5% had LDL-c/HDL-c values of > 2.2. We found a correlation between BMI and plasmatic concentrations of triglycerides (r = 0.23), IGF-1 (r = 0.211), leptin (r = 0.583), androstenedione, DHEAS, testosterone and estradiol (r = 0.35, r = 0.27, r = 0.23 and r = 0.15, respectively). There was a negative correlation between BMI and HDL-c (r = -0.21) and cortisol (r = -0.09). There was no statistically significant correlation between the degree of obesity and concentrations of cholesterol (p = 0.434) and LDL-c (p = 0.452). CONCLUSIONS: We observed a high prevalence of lipid disturbances in children under 11 years old in our population in relation to obesity.

Increase in the prevalence of overweight and obesity in the pediatric population of the province of Alicante (Spain) in the last 10 years.

INTRODUCTION: Obesity in childhood and adolescence has reached alarming proportions in Europe and the United States. As the incidence of childhood obesity has increased during last few years, the consequences of obesity in children, including type 2 diabetes, hyperlipidemia and cardiovascular disease, have also increased. MATERIAL AND METHOD: We performed a cross-sectional epidemiological study of a cohort of schoolchildren in the province of Alicante, aged 6-11 years old (n=394; 204 boys and 190 girls). Height, weight, body perimeters and skinfolds were measured. Obesity was defined according to body mass index (BMI), body perimeters and skinfolds≥2 standard deviations or≥97th percentile, using the longitudinal study of Zaragoza and Spanish growth data provided by the enKid study as the reference populations. We compared our results with the study performed in 1993 in the same province. A survey on nutritional and exercise habits was also carried out. RESULTS: The prevalence of obesity in schoolchildren in the province of Alicante, according to their BMI, ranged from 13.5% to 18.8%, depending on the growth curves used as a reference. The prevalence of overweight and obesity, based on growth and weight growth curves, increased from 9.71% to 22.3% and from 8.93% to 18.8% in boys and girls, respectively, in the last 10 years in the schoolchildren in the province of Alicante. According to our nutritional survey, intake of fruit and vegetables was low in this population. Moreover, a clear association was found between obesity and lack of physical exercise, this factor being highly important in the pathogenesis of childhood obesity. CONCLUSIONS: The prevalence of overweight and obesity has increased in Alicante since 1993.